Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_assertion> ?p ?o ?g. }
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- NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_assertion type Assertion NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_head.
- NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_assertion description "[We also report the first case of a recessive GLIS3 mutation causing neonatal diabetes and congenital hypothyroidism in a child from a non-consanguineous pedigree, highlighting the importance of molecular genetic testing in any patient with this phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_provenance.
- NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_assertion evidence source_evidence_literature NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_provenance.
- NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_assertion SIO_000772 21139041 NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_provenance.
- NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_assertion wasDerivedFrom befree-2016 NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_provenance.
- NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_assertion wasGeneratedBy ECO_0000203 NP857498.RAKsL0K4147LdaQsAfTfR7JMy1qp_zw_0-wCcfk-iFiDM130_provenance.